Mbnl1
Gene Detail

Symbol Name ID

Mbnl1 muscleblind-like 1 (Drosophila) MGI:1928482

Synonyms

mKIAA0428

Feature Type

protein coding gene

Genetic Map

Chromosome 3

29.17 cM, cytoband E1
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr3:60501252-60629748 bp, + strand From Ensembl annotation of GRCm38   128497 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:23186  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Mbnl1

Human homologs

Human Homolog		MBNL1, muscleblind-like splicing regulator 1
NCBI Gene ID		4154
neXtProt AC		NX_Q9NR56
Human Synonyms		EXP, EXP35, EXP40, EXP42, MBNL
Human Chr (Location)		3q25; chr3:151985829-152183569 (+)  GRCh37.p10

Alleles and phenotypes

All alleles(18) : Targeted(3) Gene trapped(15)
 

Mice homozygous for a targeted mutation that disrupts exon 3 exhibit myotonia, cataracts and RNA splicing defects.

 
Human Diseases Modeled Using Mouse Mbnl1 (1)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (18 annotations)

Process	alternative mRNA splicing, via spliceosome, mRNA processing, ...
Component	cytoplasm, cytoplasmic stress granule, ...
Function	double-stranded RNA binding, metal ion binding, ...

External Resources: FuncBase

Expression

Literature Summary: (11 records)
Data Summary: Results (191)    Tissues (118)    Images (28)
Theiler Stages: 2, 3, 4, 5, 6, 7, 9, 11, 13, 15, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
RNA in situ	88
Northern blot	38
Western blot	23
RT-PCR	42

cDNA source data(20)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(25) cDNA(21) Primer pair(4)
Microarray probesets(4)

Other database links

Ensembl Gene Model	ENSMUSG00000027763 (Evidence)
Entrez Gene	56758 (Evidence)
DFCI	TC1574313, TC1619330, TC1627635, TC1674891, TC1682744, TC1692087
DoTS	DT.101277117, DT.101392748, DT.101392752, DT.101737830, DT.111040299, DT.494735, DT.94325441, DT.94348116, DT.94348127, DT.97354936, DT.99860402
NIA Mouse Gene Index	U042431
Consensus CDS Project	CCDS17376.1
International Mouse Knockout Project Status	Mbnl1

Sequences

Length	Strain/Species
genomic	ENSMUSG00000027763	Ensembl Gene Model | MGI Sequence Detail	128497	C57BL/6J
transcript	ENSMUST00000099087	Ensembl | MGI Sequence Detail	5580	Not Applicable
polypeptide	ENSMUSP00000096686	Ensembl | MGI Sequence Detail	381	Not Applicable

All sequences(63) RefSeq(12) UniProt(7)

Polymorphisms

SNPs(611 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000571	Zinc finger, CCCH-type
Protein Ontology	PR:000010221	muscleblind-like protein 1

References

(Earliest) J:114763 Miller JW, et al., Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J. 2000 Sep 1;19(17):4439-48
(Latest) J:187997 Chamberlain CM, et al., Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise. Hum Mol Genet. 2012 Nov 1;21(21):4645-54
All references(57)